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Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.

Research Project

Project/Area Number 21591329
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionUniversity of the Ryukyus

Principal Investigator

KANAME Tadashi  琉球大学, 大学院・医学研究科, 准教授 (40264288)

Co-Investigator(Kenkyū-buntansha) NARITOMI Kenji  琉球大学, 大学院・医学研究科, 教授 (20101446)
YANAGI Kumiko  琉球大学, 大学院・医学研究科, 助教 (90294701)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Keywords遺伝子 / 奇形症候群 / ゲノム / 次世代シーケンサー / マイクロアレイ
Research Abstract

There are many syndromes with trigonocephaly. However, almost all the syndromes have not been identified their responsible genes and their mechanisms. The aim of this study was to identify abnormalities in the patients with trigonocephaly and to establish the gene-scanning system for responsible genes for trigonocephaly.
We identified a partial deletion of 9q34. 11 in a patient by array-CGH, a mutation in the ASXL1 gene in a patient with Bohring-Opitz syndrome by whole exome analysis using Next-generation sequencer, and mutations in CD96 or ASXL1 in six patients by direct sequencing analysis. We also established gene-scanning systems for CD96 and ASXL1 by qPCR-HRM method.
For the mechanisms of trigonocephaly, we found that CD96 interacts with an extra-cellular matrix protein, laminin.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (103 results)

All 2012 2011 2010 2009 Other

All Journal Article (33 results) (of which Peer Reviewed: 28 results) Presentation (58 results) Book (10 results) Remarks (2 results)

  • [Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012

    • Author(s)
      Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.
    • Journal Title

      Autism Res Treat

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese : Estimation and Inference using Genome-wide Data2012

    • Author(s)
      He Y
    • Journal Title

      Sci Rep

      Volume: 2 Issue: 1 Pages: 355-355

    • DOI

      10.1038/srep00355

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genetic dating indicates that the Asian-Papuan admixture th rough Eastern Indonesia corresponds to the Austronesian expansion. Proc Natl Acad2012

    • Author(s)
      Xu S, Pugach I, Stoneking M, Kayser M, Jin L
    • Journal Title

      Sci USA

      Volume: 109 Pages: 4574-4579

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Bacterial delivery of large intact genomic-DNA-containing BACs into mammalian cells2012

    • Author(s)
      Cheung W, Kotzamanis G, Abdulrazzak H, Goussard S, Kaname T, Kotsinas A, Gorgoulis VG, Grillot-Courvalin C, Huxley C.
    • Journal Title

      Bioeng Bugs

      Volume: 3 Pages: 86-92

    • URL

      http://dx.doi.org/10.4161/bbug.18621

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A commentary on implication of gene copy number variation in health and diseases2012

    • Author(s)
      Kaname T
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 79-80

    • NAID

      10030711384

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012

    • Author(s)
      Yoneda Y, Naritomi K(15人中14番目), Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 207-211

    • NAID

      10030712151

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] The history of human populations in the Japanese Archipelago inferred from genomewide SNP data with a special reference to the Ainu and the Ryukyuan populations2012

    • Author(s)
      T Jinam
    • Journal Title

      Journal of Human Genetics

      Volume: (submitted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012

    • Author(s)
      K Yanagi
    • Journal Title

      Autism Research and Treatment

      Volume: (submitted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese : Estimation and Inference using Genome-wide Data2012

    • Author(s)
      Y He
    • Journal Title

      Sci Rep

      Volume: 2

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Bacterial delivery of large intact genomic-DNA-containing BACs into mammalian cells2012

    • Author(s)
      W Cheung
    • Journal Title

      Bioeng Bugs

      Volume: 3

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A commentary on Implication of gene copy number variation in health and diseases2012

    • Author(s)
      T Kaname
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 79-80

    • NAID

      10030711384

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of cl ose relatives in the HUGO Pan-Asian SNP database2011

    • Author(s)
      Yang X, Xu S
    • Journal Title

      P LoS One

      Volume: 6

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011

    • Author(s)
      Hannibal, et al
    • Journal Title

      Am J Med Genet A

      Volume: 115A(7) Issue: 7 Pages: 1511-1516

    • DOI

      10.1002/ajmg.a.34074

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Population genetic structure of peninsular Malaysia Malay sub-ethnic groups2011

    • Author(s)
      Hatin WI, Nur-Shafawati AR, Zahri MK, Xu S, Jin L, Tan SG, Rizman-Idid M
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] MOC1 is essential for ocular and limb development in humans and mice2011

    • Author(s)
      Okada I, Kaname T(28人中21番目) Saitsu H
    • Journal Title

      Am J Hum Genet

      Volume: 88 Pages: 30-41

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011

    • Author(s)
      MC Hannibal
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 1511-1516

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Population genetic structure of peninsular Malaysia Malay sub-ethnic groups2011

    • Author(s)
      WI Hatin
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice.2011

    • Author(s)
      Okada, Ippei
    • Journal Title

      American Journal of Human Genetics

      Volume: 88 Pages: 30-41

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] DNA・遺伝子・染色体2010

    • Author(s)
      要匡
    • Journal Title

      日本医師会雑誌

      Volume: 139 Pages: 558-559

    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Journal Article] Genetic evidence supports linguistic affinity of Mlabri-a hunter-gatherer group in Thailand2010

    • Author(s)
      Xu S, Kangwanpong D, Seielstad M, Srikummool M, Kampuansai J, Jin L
    • Journal Title

      BMC Genet

      Volume: 11 Pages: 18-18

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] NDS1欠失の認められたSotos症候群16例の臨床的検討2010

    • Author(s)
      當山真弓、當山潤、遠藤尚宏、竹谷徳雄、高良幸伸、要匡、成富研二
    • Journal Title

      日本小児科学会雑誌

      Volume: 114 Pages: 48-52

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article]2010

    • Author(s)
      要匡
    • Journal Title

      知の津梁 ゆるやかな南の学と思想3(沖縄タイムス出版)

      Pages: 340-351

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Evolution of a patient with Bohring-Opitz syndrome2009

    • Author(s)
      Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1754-1757

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split-foot malformation and hearing loss2009

    • Author(s)
      Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1224-1230

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mapping human genetic diversity in Asia2009

    • Author(s)
      HUGO Pan-Asian SNP Consortium
    • Journal Title

      Science

      Volume: 326 Pages: 1541-1455

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Opitz症候群(Opitz G/BBB症候群)2009

    • Author(s)
      要匡
    • Journal Title

      小児科診療

      Volume: 72 Pages: 69-69

    • Related Report
      2011 Final Research Report
  • [Journal Article] Holt-Oram症候群2009

    • Author(s)
      要匡
    • Journal Title

      小児科診療

      Volume: 72 Pages: 53-53

    • Related Report
      2011 Final Research Report
  • [Journal Article] holoprosencephaly sequence2009

    • Author(s)
      要匡
    • Journal Title

      小児科診療

      Volume: 72 Pages: 52-52

    • Related Report
      2011 Final Research Report
  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009

    • Author(s)
      Kuniba H, Kaname T, Naritomi K(19人中11, 12番目), Niikawa N
    • Journal Title

      J Hum Genet

      Volume: 54 Pages: 304-309

    • NAID

      10030730501

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009

    • Author(s)
      Kuniba, et al.
    • Journal Title

      Journal of Human Genetics Vol.54

      Pages: 304-309

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss2009

    • Author(s)
      Saitsu, et al.
    • Journal Title

      American Journal of Medical Genetics Vol.149A

      Pages: 1224-1230

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Evolution of a Patient with Bohring-Opitz Syndrome2009

    • Author(s)
      Pierron, et al.
    • Journal Title

      American Journal of Medical Genetics Vol.149A

      Pages: 1754-1757

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Exome解析を活用したヒト遺伝性疾患の原因解析の実践(invited)2012

    • Author(s)
      要匡
    • Organizer
      ゲノムテクノロジー第164委員会沖縄分科会
    • Place of Presentation
      那覇
    • Year and Date
      2012-01-25
    • Related Report
      2011 Final Research Report
  • [Presentation] Exome解析を活用したヒト遺伝性疾患の原因解析の実践2012

    • Author(s)
      要匡
    • Organizer
      ゲノムテクノロジー第164委員会沖縄分科会
    • Place of Presentation
      沖縄県市町村自治会館(沖縄)(招待講演)
    • Year and Date
      2012-01-25
    • Related Report
      2011 Annual Research Report
  • [Presentation] Lenz小眼球症候群を呈する一家系の原因遺伝子解析2011

    • Author(s)
      要匡、他
    • Organizer
      第18回出生前診断研究会
    • Place of Presentation
      佐賀
    • Year and Date
      2011-10-01
    • Related Report
      2011 Final Research Report
  • [Presentation] Lenz小眼球症候群を呈する一家系の原因遺伝子解析2011

    • Author(s)
      要匡
    • Organizer
      第18回出生前診断研究会
    • Place of Presentation
      佐賀大学医学部(佐賀)
    • Year and Date
      2011-10-01
    • Related Report
      2011 Annual Research Report
  • [Presentation] 医学研究とバイオインフォマティクス(invited)2011

    • Author(s)
      要匡
    • Organizer
      バイオインフォマティクス・フォーラムin沖縄2011
    • Place of Presentation
      那覇
    • Year and Date
      2011-06-26
    • Related Report
      2011 Final Research Report
  • [Presentation] 医学研究とバイオインフォマティクス2011

    • Author(s)
      要匡
    • Organizer
      バイオインフォマティクス・フォーラムin沖縄2011
    • Place of Presentation
      那覇(沖縄)(招待講演)
    • Year and Date
      2011-06-26
    • Related Report
      2011 Annual Research Report
  • [Presentation] 次世代シーケンサが拓く医療・医学の新時代(invited)2011

    • Author(s)
      要匡
    • Organizer
      OKINAWAライフサイエンスシンポジウムIII
    • Place of Presentation
      那覇
    • Year and Date
      2011-01-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 次世代シーケンサが拓く医療・医学の新時代2011

    • Author(s)
      要匡
    • Organizer
      OKINAWAライフサイエンスシンポジウムIII
    • Place of Presentation
      パシフィックホテル沖縄(沖縄)
    • Year and Date
      2011-01-20
    • Related Report
      2010 Annual Research Report
  • [Presentation] The practice of whole exome sequencing in two genetic diseases, X-linked recessive and autosomal dominant disorders(invited)2011

    • Author(s)
      Kaname T
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Related Report
      2011 Final Research Report
  • [Presentation] Opitz C様症候群(Bohring-Opitz症候群)におけるASXL1遺伝子変異2011

    • Author(s)
      要匡、他
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Related Report
      2011 Final Research Report
  • [Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011

    • Author(s)
      Kaname T, et al.
    • Organizer
      61^<st> the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Montreal, Canada
    • Related Report
      2011 Final Research Report
  • [Presentation] 免疫グロブリンスーパーファミリーCD96の細胞外マトリックスタンパク質との反応性の検討2011

    • Author(s)
      要匡、他
    • Organizer
      第84回日本生化学会大会
    • Place of Presentation
      京都
    • Related Report
      2011 Final Research Report
  • [Presentation] Opitz三角頭蓋症候群原因遺伝子CD96のPCR-HRM法による変異スキャニングシステム2011

    • Author(s)
      要匡、他
    • Organizer
      第51回日本先天異常学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2011 Final Research Report
  • [Presentation] Analysis of interaction between CD96 and extracellular matrix proteins2011

    • Author(s)
      Kaname T, et al
    • Organizer
      44th Annual Meeting for the Japanese Society of Developmental Biologists
    • Place of Presentation
      Okinawa
    • Related Report
      2011 Final Research Report
  • [Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2011

    • Author(s)
      Kaname T, et al.
    • Organizer
      60^<th> the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Washington DC, USA.
    • Related Report
      2011 Final Research Report
  • [Presentation] The practice of whole exome sequencing in two genetic diseases, X-linked recessive and autosomal dominant disorders2011

    • Author(s)
      T Kaname
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川)(招待講演)
    • Related Report
      2011 Annual Research Report
  • [Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011

    • Author(s)
      柳久美子
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川)
    • Related Report
      2011 Annual Research Report
  • [Presentation] Opitz C様症候群(Bohring-Opitz症候群)におけるASXL1遺伝子変異2011

    • Author(s)
      要匡
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Annual Research Report
  • [Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異2011

    • Author(s)
      柳久美子
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Annual Research Report
  • [Presentation] 沖縄県における前庭水管拡大症の遺伝学的検討2011

    • Author(s)
      我那覇章
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Annual Research Report
  • [Presentation] SMOC1は眼球・四肢発生に重要である2011

    • Author(s)
      浜之上はるか
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Related Report
      2011 Annual Research Report
  • [Presentation] 免疫グロブリンスーパーファミリーCD96の細胞外マトリックスタンパク質との反応性の検討2011

    • Author(s)
      要匡
    • Organizer
      第84回日本生化学会大会
    • Place of Presentation
      京都国際会館(京都)
    • Related Report
      2011 Annual Research Report
  • [Presentation] Opitz三角頭蓋症候群原因遺伝子CD96のPCR-HRM法による変異スキャニングシステム2011

    • Author(s)
      要匡
    • Organizer
      第51回日本先天異常学会学術集会
    • Place of Presentation
      シェーンバッハ・サボー(東京)
    • Related Report
      2011 Annual Research Report
  • [Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011

    • Author(s)
      T Kaname
    • Organizer
      44th Annual Meeting for the Japanese Society of Developmental Biologists
    • Place of Presentation
      Okinawa Convention Center, Okinawa
    • Related Report
      2011 Annual Research Report
  • [Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011

    • Author(s)
      T Kaname
    • Organizer
      The American Society of Human Genetics, 60th Annual Meeting
    • Place of Presentation
      Montreal, Quebec, Canada
    • Related Report
      2011 Annual Research Report
  • [Presentation] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010

    • Author(s)
      要匡、他
    • Organizer
      第17回出生前診断研究会
    • Place of Presentation
      那覇
    • Year and Date
      2010-11-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 微量検体からの迅速・安価な遺伝子変異スキャニングシステムの構築2010

    • Author(s)
      要匡
    • Organizer
      第17回出生前診断研究会
    • Place of Presentation
      沖縄小児保健センター(沖縄)
    • Year and Date
      2010-11-20
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒト遺伝性疾患の原因同定へ向けた全候補領域リシーケンス解析2010

    • Author(s)
      要匡
    • Organizer
      第4回 バイオインフォマティクス研究者と医学研究者の交流会
    • Place of Presentation
      東京大学柏キャンパス柏(千葉)
    • Year and Date
      2010-11-20
    • Related Report
      2009 Annual Research Report
  • [Presentation] Exploring the responsible gene for a familial ALS by next-generation sequencer(invited)2010

    • Author(s)
      Kaname T, et al.
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-22
    • Related Report
      2011 Final Research Report
  • [Presentation] Exploring the responsible gene for a familial ALS by next-generation sequencer.2010

    • Author(s)
      Kaname, Tadashi
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京国際フォーラム(東京)
    • Year and Date
      2010-05-22
    • Related Report
      2010 Annual Research Report
  • [Presentation] これから目線でゲノムを見に行こう.次世代シーケンサーが我々にもたらしたもの-(invited)2010

    • Author(s)
      要匡
    • Organizer
      市民講座「ゲノム情報がもたらす医療の革新」
    • Place of Presentation
      東京
    • Year and Date
      2010-02-28
    • Related Report
      2011 Final Research Report
  • [Presentation] これから目線でゲノムを見に行こう -次世代シーケンサーが我々にもたらしたもの-2010

    • Author(s)
      要匡
    • Organizer
      市民講座「ゲノム情報がもたらす医療の革新」
    • Place of Presentation
      日本科学未来館 東京
    • Year and Date
      2010-02-28
    • Related Report
      2009 Annual Research Report
  • [Presentation] Exome analysis in a patient with Kabuki make-up syndrome by whole exon capture and re-sequencing2010

    • Author(s)
      要匡、他
    • Organizer
      BMB2010
    • Place of Presentation
      神戸
    • Related Report
      2011 Final Research Report
  • [Presentation] 歌舞伎メーキャップ症候群のエクソーム解析2010

    • Author(s)
      要匡、他
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Related Report
      2011 Final Research Report
  • [Presentation] PCR-高精度融解曲線分析法による自閉症関連遺伝子群の変異/多型スクリーニングシステムの構築2010

    • Author(s)
      要匡、他
    • Organizer
      第50回に本先天異常学会学術集会
    • Place of Presentation
      淡路(兵庫)
    • Related Report
      2011 Final Research Report
  • [Presentation] Resequencing of the candidate region for 16q-ADCA and detection of an insertion polymorphism by fragment assembly data using massively parallel short-read sequencing2010

    • Author(s)
      Kaname T, et al.
    • Organizer
      ESHG2010(EUROPEAN Human Genetics Conference 2010)
    • Place of Presentation
      Gothenburg, Sweden
    • Related Report
      2011 Final Research Report
  • [Presentation] 自閉症関連遺伝子NLGN3, NLGN4の高速多型スキャニングシステムの構築と解析2010

    • Author(s)
      要匡、他
    • Organizer
      第113回日本小児科学会学術集会
    • Place of Presentation
      盛岡
    • Related Report
      2011 Final Research Report
  • [Presentation] 自閉症関連遺伝子NLGN3, NLGN4の高速多型スキャニングシステムの構築と解析2010

    • Author(s)
      要匡
    • Organizer
      第113回 日本小児科学会学術集会
    • Place of Presentation
      盛岡市民文化ホール(岩手)
    • Related Report
      2010 Annual Research Report
  • [Presentation] Resequencing of the candidate region for 16q-ADCA and detection of an insertion polymorphism by fragment assembly data using massively parallel short-read sequencing.2010

    • Author(s)
      Kaname, Tadashi
    • Organizer
      ESHG2010 (EUROPEAN Human GeneticsCONFERENCE 2010)
    • Place of Presentation
      Gothenburg Convention Center, Sweden
    • Related Report
      2010 Annual Research Report
  • [Presentation] 歌舞伎メーキャップ症候群のエクソーム解析2010

    • Author(s)
      要匡
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮ソニックシティー(埼玉)
    • Related Report
      2010 Annual Research Report
  • [Presentation] Opitz三角頭蓋症候群診断のためのCD96遺伝子スキャニングシステムの構築2010

    • Author(s)
      森田この美
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮ソニックシティー(埼玉)
    • Related Report
      2010 Annual Research Report
  • [Presentation] Re-sequencing analysis of candidate region for a neurodegenerative disorder by massively parallel sequencing2010

    • Author(s)
      Kaname, Tadashi
    • Organizer
      60th the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Washington Convention Center, Washington DC (USA)
    • Related Report
      2010 Annual Research Report
  • [Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2010

    • Author(s)
      Yanagi, Kumiko
    • Organizer
      60th the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Washington Convention Center, Washington DC (USA)
    • Related Report
      2010 Annual Research Report
  • [Presentation] Exome analysis in a patient with Kabuki make-up syndrome by whole exon capture and re-sequencing2010

    • Author(s)
      要匡
    • Organizer
      BMB2010 (第33回日本分子生物学会・第83回日本生化学会大会 合同大会)
    • Place of Presentation
      神戸ポートアイランド(兵庫)
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒト遺伝性疾患の原因同定へ向けた全候補領域リシーケンス解析(invited)2009

    • Author(s)
      要匡
    • Organizer
      第4回バイオインフォマティクス研究者と医学研究者の交流会
    • Place of Presentation
      柏(千葉)
    • Year and Date
      2009-11-20
    • Related Report
      2011 Final Research Report
  • [Presentation] Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing2009

    • Author(s)
      Kaname T, et al.
    • Organizer
      59^<th> the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Hawaii, USA.
    • Year and Date
      2009-10-22
    • Related Report
      2011 Final Research Report
  • [Presentation] Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing2009

    • Author(s)
      要匡, et al.
    • Organizer
      59^<th> the American Society of Human Genetics Annual meeting
    • Place of Presentation
      Hawaii, USA
    • Year and Date
      2009-10-22
    • Related Report
      2009 Annual Research Report
  • [Presentation] 次世代シーケンサによる日本人ゲノム16q-ADCA原因候補領域の構造解析2009

    • Author(s)
      要匡、他
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-25
    • Related Report
      2011 Final Research Report
  • [Presentation] 次世代シーケンサによる日本人ゲノム16q-ADCA原因候補領域の構造解析2009

    • Author(s)
      要匡, ら
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      グランドプリンスホテル高輪 東京
    • Year and Date
      2009-09-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] 次世代シーケンサを用いた原因全候補領域リシーケンス解析へのアプローチ2009

    • Author(s)
      要匡、他
    • Organizer
      第16回日本遺伝子診療学会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Related Report
      2011 Final Research Report
  • [Presentation] 次世代シーケンサを用いた原因候補全領域リシーケンス解析へのアプローチ;日本人ゲノム16q22領域の構造解析2009

    • Author(s)
      要匡, ら
    • Organizer
      第16回 日本遺伝子診療学会
    • Place of Presentation
      ホテル札幌ガーデンパレス 札幌
    • Year and Date
      2009-07-31
    • Related Report
      2009 Annual Research Report
  • [Presentation] 次世代シーケンサを用いた染色体16q22領域の日本人ゲノム構造解析2009

    • Author(s)
      要匡、他
    • Organizer
      第49回日本先天異常学会学術集会
    • Place of Presentation
      鹿児島
    • Year and Date
      2009-06-26
    • Related Report
      2011 Final Research Report
  • [Presentation] 次世代シーケンサを用いた染色体16q22領域の日本人ゲノム構造解析2009

    • Author(s)
      要匡, ら
    • Organizer
      第49回 日本先天異常学会学術集会
    • Place of Presentation
      鹿児島市民文化ホール, 鹿児島
    • Year and Date
      2009-06-26
    • Related Report
      2009 Annual Research Report
  • [Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断(invited)2009

    • Author(s)
      成富研二、要匡
    • Organizer
      第49回日本先天異常学会学術集会
    • Place of Presentation
      鹿児島
    • Year and Date
      2009-06-25
    • Related Report
      2011 Final Research Report
  • [Presentation] ヒト疾患と遺伝子:臨床診断と責任遺伝子診断2009

    • Author(s)
      成富研二, 要匡
    • Organizer
      第49回 日本先天異常学会学術集会
    • Place of Presentation
      鹿児島市民文化ホール, 鹿児島
    • Year and Date
      2009-06-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene2009

    • Author(s)
      Kaname T, et al.
    • Organizer
      ESHG2009(EUROPEAN Human Genetics Conference 2009)
    • Place of Presentation
      Vienna, Austria
    • Year and Date
      2009-05-24
    • Related Report
      2011 Final Research Report
  • [Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene, FGD12009

    • Author(s)
      要匡, et al.
    • Organizer
      European Human Genetics Conference 2009
    • Place of Presentation
      Vienna, Austria
    • Year and Date
      2009-05-24
    • Related Report
      2009 Annual Research Report
  • [Presentation] PCR-高解像度融解曲線分析法による高速遺伝子変異スクリーニングシステムの構築2009

    • Author(s)
      要匡、他
    • Organizer
      第112回日本小児科学会学術集会
    • Place of Presentation
      奈良
    • Related Report
      2011 Final Research Report
  • [Book] Midkine : From embryogenesis to pathogenesis and medication2012

    • Author(s)
      Kaname T, Yanagi K, Maehara H. Osteosarcoma and midkine
    • Publisher
      Springer(in press)
    • Related Report
      2011 Final Research Report
  • [Book] Encyclopedia of Genetics 2^<nd> edn2012

    • Author(s)
      Kaname T. Female carrier.
    • Publisher
      Elsevier(in press)
    • Related Report
      2011 Final Research Report
  • [Book] Encyclopedia of Genetics 2^<nd> edn2012

    • Author(s)
      Kaname T. Inversion
    • Publisher
      Elsevier(in press)
    • Related Report
      2011 Final Research Report
  • [Book] Osteosarcoma and midkine. 'Midkine : From embryogenesis to pathogenesis and medication'2012

    • Author(s)
      T Kaname
    • Total Pages
      380
    • Publisher
      Springer
    • Related Report
      2011 Annual Research Report
  • [Book] Female carrier 'Encyclopedia of Genetics 2nd edn'2012

    • Author(s)
      T Kaname
    • Publisher
      Elsevier(印刷中)
    • Related Report
      2011 Annual Research Report
  • [Book] Inversion 'Encyclopedia of Genetics 2nd edn'2012

    • Author(s)
      T Kaname
    • Publisher
      Elsevier(印刷中)
    • Related Report
      2011 Annual Research Report
  • [Book] オピッツ症候群「症候群ハンドブック」2011

    • Author(s)
      成富研二
    • Total Pages
      674
    • Publisher
      中山書店
    • Related Report
      2011 Final Research Report
  • [Book] オピッツC症候群「症候群ハンドブック」2011

    • Author(s)
      要匡
    • Total Pages
      666
    • Publisher
      中山書店
    • Related Report
      2011 Final Research Report
  • [Book] 症候群ハンドブック (オピッツC症候群)2011

    • Author(s)
      要匡
    • Publisher
      中山書店(印刷中)
    • Related Report
      2010 Annual Research Report
  • [Book] ゆるやかなゲノムのはなし「知の津梁やわらかい南の学徒思想3」2010

    • Author(s)
      要匡
    • Publisher
      沖縄タイムス出版
    • Related Report
      2011 Final Research Report
  • [Remarks] 琉球大学遺伝医学

    • URL

      http://web.me.com/knaritomi/Home.html

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • Related Report
      2011 Annual Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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